ClinVar Miner

List of variants reported as likely benign for autosomal dominant nonsyndromic hearing loss 5

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001127453.2(GSDME):c.*321T>G rs573722628 0.00163
NM_001127453.2(GSDME):c.*72C>T rs115865539 0.00162
NM_001127453.2(GSDME):c.528C>T (p.Val176=) rs138741730 0.00105
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) rs138980048 0.00043
NM_001127453.2(GSDME):c.*346G>C rs144928530 0.00038
NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro) rs199971778 0.00036
NM_001127453.2(GSDME):c.*24G>A rs199887441 0.00024
NM_001127453.2(GSDME):c.1183+9A>T rs397516910 0.00014
NM_001127453.2(GSDME):c.576+13G>A rs367730024 0.00006
NM_001127453.2(GSDME):c.*429T>C rs538502935 0.00005
NM_001127453.2(GSDME):c.584C>T (p.Ala195Val) rs534396774 0.00005
NM_001127453.2(GSDME):c.906G>A (p.Leu302=) rs141596134 0.00004
NM_001127453.2(GSDME):c.*81T>G rs541774350
NM_001127453.2(GSDME):c.939C>T (p.Ile313=) rs556679282

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